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Sialic Acid Storage Disease
Hierarchy: | ∟ ∟ ∟ ∟ ∟ ∟ Sialic Acid Storage Disease 4 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ Sialic Acid Storage Disease 4 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ Sialic Acid Storage Disease 4 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ Sialic Acid Storage Disease 4 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ Sialic Acid Storage Disease 4 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ Sialic Acid Storage Disease 4 coordinate conceptsX |
Broader terms: | ∟ ∟ ∟ ∟ ∟ ∟ Sialic Acid Storage Disease ∟ ∟ ∟ ∟ ∟ ∟ Sialic Acid Storage Disease ∟ ∟ ∟ ∟ ∟ ∟ ∟ Sialic Acid Storage Disease ∟ ∟ ∟ ∟ ∟ ∟ Sialic Acid Storage Disease ∟ ∟ ∟ ∟ ∟ ∟ Sialic Acid Storage Disease ∟ ∟ ∟ ∟ ∟ ∟ Sialic Acid Storage Disease |
History note: | |
historyNote*: | 2002
X |
publicMeSHNote*: | 2002
X |
Scope note: | Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes, which are allelic variants of the SLC17A5 gene, are ISSD, a severe infantile form, or Salla disease, a slowly progressive adult form, named for the geographic area in Finland where the kindred first studied resided.
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 2001-07-25X |
dateEstablished*: | 2002-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | nnsX |
Type: | |
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Labels and equivalent concepts: | Sialihapon kertymäsairaus (fi) XSialuria, Infantile Form (en, replaced) Sialuria, Finnish Type (en, replaced) Sialuria (en, replaced) Sialic Acid Storage Disease, Infantile Form (en, replaced) Sialic Acid Storage Disease, Finnish Type (en, replaced) |
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